ClinVar Miner

List of variants in gene DLG4 reported as uncertain significance for autosomal dominant non-syndromic intellectual disability

Included ClinVar conditions (47):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001321075.3(DLG4):c.740G>A (p.Ser247Asn) rs200396689 0.00001
NM_001321075.3(DLG4):c.96+6C>A rs769063541 0.00001
NM_001321075.3(DLG4):c.1478+4_1478+19del rs2142830394
NM_001321075.3(DLG4):c.1592-2A>C
NM_001321075.3(DLG4):c.1690C>T (p.Pro564Ser)
NM_001321075.3(DLG4):c.1693C>T (p.His565Tyr)
NM_001321075.3(DLG4):c.1711C>T (p.Arg571Trp) rs2069587140
NM_001321075.3(DLG4):c.1756C>T (p.Arg586Trp)
NM_001321075.3(DLG4):c.1829G>T (p.Gly610Val)
NM_001321075.3(DLG4):c.352C>G (p.Leu118Val)
NM_001321075.3(DLG4):c.398C>A (p.Ala133Glu)
NM_001321075.3(DLG4):c.592G>A (p.Gly198Ser) rs1326420629
NM_001321075.3(DLG4):c.593G>T (p.Gly198Val)
NM_001321075.3(DLG4):c.782C>G (p.Thr261Arg)
NM_001321075.3(DLG4):c.787+4A>G

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